Deconvolution-based assessment of pituitary GH secretion stimulated with GHRH+arginine in Prader-Willi adults and obese controls.

Objective The assessment of GH deficiency in adult patients with Prader-Willi syndrome (PWS) has been previously assessed through the evaluation of quantitative parameters, such as the peak value of GH response to exogenous stimuli. A comprehensive description of the pattern of secretory response obtainable by deconvolution analysis is still lacking. The aim of our study was to characterize the time evolution of responses of PWS subjects compared with obese controls. Design and subjects GH responsiveness was measured following the combined administration of GHRH+arginine to 65 PWS adults (24 males, 41 females) aged 18-41.2 years, and 17 age-, gender-and body mass index-matched obese controls. PWS subjects were analysed considering the stratification on different genotypes. Measurements GH response to GHRH+arginine was analysed in terms of peak values, standard area under the curves (AUCs), AUCs due to the stimulus, AUCs of the Instantaneous Secretion Rate signal and Secretion Response Analysis. Results In terms of both peak values and AUC, GH responses were statistically different between PWS UPD15 and PWS DEL15 subjects as well as between PWS UPD15 and obese controls. PWS subjects showed a lower and a more delayed GH response compared with obese controls. Moreover, PWS UPD15 subjects had the most delayed GH response. Conclusions Our findings demonstrate that impaired GH secretion in PWS subjects compared with obese controls regards not only amplitude parameters such as peak value and AUC, but also the shape of the secretory response, which is more delayed, especially for UPD15 subjects

Postural adaptations to long-term training in Prader-Willi patients

<p>Abstract</p> <p>Background</p> <p>Improving balance and reducing risk of falls is a relevant issue in Prader-Willi Syndrome (PWS). The present study aims to quantify the effect of a mixed training program on balance in patients with PWS.</p> <p>Methods</p> <p>Eleven adult PWS patients (mean age: 33.8 ± 4.3 years; mean BMI: 43.3 ± 5.9 Kg/m2) attended a 2-week training program including balance exercises during their hospital stay. At discharge, Group 1 (6 patients) continued the same exercises at home for 6 months, while Group 2 (5 patients) quitted the program. In both groups, a low-calorie, well-balanced diet of 1.200 kcal/day was advised. They were assessed at admission (PRE), after 2 weeks (POST1) and at 6-month (POST2). The assessment consisted of a clinical examination, video recording and 60-second postural evaluation on a force platform. Range of center of pressure (CoP) displacement in the antero-posterior direction (RANGE_APindex) and the medio-lateral direction (RANGE_MLindex) and its total trajectory length were computed.</p> <p>Results</p> <p>At POST1, no significant changes in all of the postural parameters were observed. At completion of the home program (POST2), the postural assessment did not reveal significant modifications. No changes in BMI were observed in PWS at POST2.</p> <p>Conclusions</p> <p>Our results showed that a long-term mixed, but predominantly home-based training on PWS individuals was not effective in improving balance capacity. Possible causes of the lack of effectiveness of our intervention include lack of training specificity, an inadequate dose of exercise, an underestimation of the neural and sensory component in planning rehabilitation exercise and failed body weight reduction during the training. Also, the physiology of balance instability in these patients may possibly compose a complex puzzle not affected by our exercise training, mainly targeting muscle weakness.</p

Analysis of the human Y-chromosome haplogroup Q characterizes ancient population movements in Eurasia and the Americas

Background: Recent genome studies of modern and ancient samples have proposed that Native Americans derive from a subset of the Eurasian gene pool carried to America by an ancestral Beringian population, from which two well-differentiated components originated and subsequently mixed in different proportion during their spread in the Americas. To assess the timing, places of origin and extent of admixture between these components, we performed an analysis of the Y-chromosome haplogroup Q, which is the only Pan-American haplogroup and accounts for virtually all Native American Y chromosomes in Mesoamerica and South America. Results: Our analyses of 1.5 Mb of 152 Y chromosomes, 34 re-sequenced in this work, support a "coastal and inland routes scenario" for the first entrance of modern humans in North America. We show a major phase of male population growth in the Americas after 15 thousand years ago (kya), followed by a period of constant population size from 8 to 3 kya, after which a secondary sign of growth was registered. The estimated dates of the first expansion in Mesoamerica and the Isthmo-Colombian Area, mainly revealed by haplogroup Q-Z780, suggest an entrance in South America prior to 15 kya. During the global constant population size phase, local South American hints of growth were registered by different Q-M848 sub-clades. These expansion events, which started during the Holocene with the improvement of climatic conditions, can be ascribed to multiple cultural changes rather than a steady population growth and a single cohesive culture diffusion as it occurred in Europe. Conclusions: We established and dated a detailed haplogroup Q phylogeny that provides new insights into the geographic distribution of its Eurasian and American branches in modern and ancient samples

Differences in spinal postures and mobility among adults with Prader-Willi syndrome, essential obesity, and normal-weight individuals

IntroductionSpinal kinematics/motion are reported to be altered in adolescents and adults with essential obesity, while no information is available in patients with Prader-Willi syndrome so far. The aim of this study was to examine cross-sectionally the characteristics of spinal postures and mobility in 34 patients with PWS, in 35 age- and sex-matched adults with essential obesity, and in 37 normal-weight individuals.MethodsSpinal posture and mobility were assessed using a radiation-free back scan, the Idiag M360 (Idiag, Fehraltorf, Switzerland). Differences in spinal posture and mobility between the three groups were determined using a two-way analysis of variance.ResultsAdults with Prader-Willi syndrome had greater thoracic kyphosis [difference between groups (Δ) = 9.60, 95% CI 3.30 to 15.60, p = 0.001], less lumbar lordosis (Δ = -6.50, 95% CI -12.70 to -0.30, p = 0.03) as well as smaller lumbar and hip mobility than those with normal weight.DiscussionAlthough the characteristics of the spine in patients with Prader-Will syndrome appear to be similar to that found in subjects with essential obesity, Prader-Willi syndrome was found to influence lumbar movements more than thoracic mobility. These results provide relevant information about the characteristics of the spine in adults with Prader-Willi syndrome to be taken into careful consideration in the management of spinal conditions. These findings also highlight the importance of considering the musculoskeletal assessment of spinal postures and approaches targeting spinal and hip flexibility in adults with Prader-Willi syndrome

Skeletal muscle characteristics and motor performance after 2-year growth hormone treatment in adults with prader-willi syndrome.

Context:In adults with Prader-Willi syndrome (PWS), abnormal body composition with decreased lean body mass and skeletal muscle (SM) volume has been related to altered GH secretion and may possibly contribute to greatly reduced motor capacity.Objective:The scope of the study was to test the hypothesis that GH treatment has favorable effects on SM characteristics and motor performance in adults with PWS.Design, Setting, and Participants:Fifteen obese PWS subjects (nine males and six females; age range, 19–35 y; body mass index, 37.7–59.9 kg/m2) were investigated before and after 12 (GH12) and 24 (GH24) months of GH treatment.Main Outcome Measures:SM cross-sectional area and SM attenuation were determined with computed tomography at the lumbar and midthigh levels. Maximal isometric handgrip strength and isokinetic knee extension peak torque were measured. Motor performance was evaluated with different indoor walking tests, whereas exercise endurance was assessed with a treadmill incremental test to exhaustion.Results:A condition of severe GH deficiency was found in six patients (40%). GH treatment significantly increased lean body mass (GH12, P &lt; .05; GH24, P &lt; .05), reduced percentage of body fat (GH12, P &lt; .05; GH24, P &lt; .05), and augmented SM cross-sectional area and SM attenuation of both lumbar (GH12, P &lt; .01; GH24, P &lt; .001) and thigh muscles (GH24, P &lt; .05). Handgrip strength increased by 7% at GH12 (P &lt; .05) and by 13% at GH24 (P &lt; .001). Peak torque of knee extension extrapolated at zero angular velocity was significantly higher at GH24 (P &lt; .01), and exercise endurance rose by 13% (P &lt; .05) and 17% (P &lt; .05) before exhaustion at GH12 and GH24, respectively, whereas no change was detected with walking tests. No significant difference in the response to GH treatment was detected between patients with and without GH deficiency.Conclusion:Long-term GH treatment in adult PWS patients improves body composition and muscle size and quality and increases muscle strength and exercise tolerance independently from the GH secretory status

The genetic background and vitamin D supplementation can affect irisin levels in Prader–Willi syndrome

Background Prader–Willi syndrome (PWS) is associated to distinctive clinical symptoms, including obesity, cognitive and behavioral disorders, and bone impairment. Irisin is a myokine that acts on several target organs including brain adipose tissue and bone. The present study was finalized to explore circulating levels of irisin in children and adult PWS patients. Methods Seventy-eight subjects with PWS, 26 children (15 females, mean age 9.48 ± 3.6 years) and 52 adults (30 females, mean age 30.6 ± 10.7) were enrolled. Irisin serum levels were measured in patients and controls. Its levels were related with anthropometric and metabolic parameters, cognitive performance and bone mineral density either in pediatric or adult PWS. Multiple regression analysis was also performed. Results Irisin serum levels in PWS patients did not show different compared with controls. A more in-depth analysis showed that both pediatric and adult PWS with DEL15 displayed significantly reduced irisin levels compared to controls. Otherwise, no differences in irisin concentration were found in UPD15 patients with respect to controls. Our study revealed that in pediatric PWS the 25(OH) vitamin-D levels affected irisin serum concentration. Indeed, patients who were not supplemented with vitamin D showed lower irisin levels than controls and patients performing the supplementation. Multiple regression analysis showed that irisin levels in pediatric and adult PWS were predicted by the genetic background and 25(OH)-vitamin D levels, whereas in a group of 29 adult PWS also by intelligent Quotient. Conclusion We demonstrated the possible role of genetic background and vitamin-D supplementation on irisin serum levels in PWS patients

Y-Chromosome Diversity in Modern Bulgarians: New Clues about Their Ancestry

To better define the structure and origin of the Bulgarian paternal gene pool, we have examined the Y-chromosome variation in 808 Bulgarian males. The analysis was performed by high-resolution genotyping of biallelic markers and by analyzing the STR variation within the most informative haplogroups. We found that the Y-chromosome gene pool in modern Bulgarians is primarily represented by Western Eurasian haplogroups with , 40% belonging to haplogroups E-V13 and I-M423, and 20% to R-M17. Haplogroups common in the Middle East (J and G) and in South Western Asia (R-L23*) occur at frequencies of 19% and 5%, respectively. Haplogroups C, N and Q, distinctive for Altaic and Central Asian Turkic-speaking populations, occur at the negligible frequency of only 1.5%. Principal Component analyses group Bulgarians with European populations, apart from Central Asian Turkic-speaking groups and South Western Asia populations. Within the country, the genetic variation is structured in Western, Central and Eastern Bulgaria indicating that the Balkan Mountains have been permeable to human movements. The lineage analysis provided the following interesting results: (i) R-L23* is present in Eastern Bulgaria since the post glacial period; (ii) haplogroup E-V13 has a Mesolithic age in Bulgaria from where it expanded after the arrival of farming; (iii) haplogroup J-M241 probably reflects the Neolithic westward expansion of farmers from the earliest sites along the Black Sea. On the whole, in light of the most recent historical studies, which indicate a substantial proto-Bulgarian input to the contemporary Bulgarian people, our data suggest that a common paternal ancestry between the proto-Bulgarians and the Altaic and Central Asian Turkic-speaking populations either did not exist or was negligible

Are there sex differences in physiological parameters and reaction time responses to overload in firefighters?

Male and female firefighters work side-by-side in the same in strenuous and risky conditions. Anthropometrics, physiological, and reaction time (mean of reaction time -MRT-, and errors made -E) parameters of 12 Female and 13 Male firefighters were compared. Effect of overload (step test with and without equipment) on the MRT and E were analyzed on 3 trials (T1 = 1-1s, T2 = 0.5-1s, T3 = 0.5-0.5s), compared with a pre-test condition (basal). T-test between males and females was applied to assess differences (p<0.05) in all parameters. ANOVA with repeated measures and Bonferroni on 3 conditions of step test between males and females was applied in reaction time variables. Between MRT and E, in T1, T2 and T3 trials and the 3 test conditions, ANCOVA models with interactions were used. Differences (p<0.05) in anthropometric, physiological and reaction time data emerged across groups, and on the 3rd trials (T3 vs T1 and T2) in reaction time parameters of each group. ANCOVA showed differences (p<0.001) in E among trials. Post hoc showed significant differences in T1vsT3 and T1vsT2. MRT x trial interaction was extremely significant (P<0.001). Implementing fitness and reaction time exercise programs is important to decrease the injury risk and increase work capacity in firefighters with reference to female workers